Search Results - "Cole, T R P"

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD) by Hughes, L A, McKay-Bounford, K, Webb, E A, Dasani, P, Clokie, S, Chandran, H, McCarthy, L, Mohamed, Z, Kirk, J M W, Krone, N P, Allen, S, Cole, T R P

“…Disorders of sex development (DSDs) are a diverse group of conditions where the chromosomal, gonadal or anatomical sex can be atypical. The highly…”
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Germline E-cadherin Gene (CDH1) Mutations Predispose to Familial Gastric Cancer and Colorectal Cancer by Richards, Frances M., McKee, Shane A., Rajpar, M. Helen, Cole, Trevor R. P., Evans, D. Gareth R., Jankowski, Janusz A., McKeown, Carole, Sanders, D. Scott A., Maher, Eamonn R.

“…Inherited mutations in the E-cadherin gene (CDH1) were described recently in three Maori kindreds with familial gastric cancer. Familial gastric cancer is…”
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Growth in Sotos syndrome by Agwu, J C, Shaw, N J, Kirk, J, Chapman, S, Ravine, D, Cole, T R P

“…Although there are several reports on infant and childhood growth in patients with Sotos syndrome, there is little information on the final height achieved and…”
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ABC Of Colorectal Cancer: The Role Of Clinical Genetics In Management by Cole, T. R. P., Sleightholme, H. V.

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Psychological characteristics of Sotos syndrome by Rutter, S C, Cole, T R

“…A preliminary investigation of the psychological characteristics of 16 children aged between five and 15 years who met the strict diagnostic criteria for Sotos…”
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Autosomal dominant macrocephaly: benign familial macrocephaly or a new syndrome? by Cole, T R, Hughes, H E

“…During the course of a clinical study of Sotos syndrome, six out of 79 probands failed to fit the phenotype of Sotos syndrome but showed remarkable…”
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Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification by Douglas, J, Tatton-Brown, K, Coleman, K, Guerrero, S, Berg, J, Cole, T R P, FitzPatrick, D, Gillerot, Y, Hughes, H E, Pilz, D, Raymond, F L, Temple, I K, Irrthum, A, Schouten, J P, Rahman, N

“…Background: Most cases of Sotos syndrome are caused by intragenic NSD1 mutations or 5q35 microdeletions. It is uncertain whether allelic or genetic…”
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Congenital contractural arachnodactyly with unilateral lower limb deficiency by Cole, T R, Hughes, H E

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ABC of colorectal cancer: The role of clinical genetics in management by Cole, T R P, Sleightholme, H V

“…Hereditary non-polyposis colon cancer (also known as Lynch syndrome) became more widely recognised about 30 years ago in families manifesting mainly colorectal…”
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The role of clinical genetics in management by COLE, T. R. P, SLEIGHTHOLME, H. V

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Metacarpophalangeal pattern profile analysis in Sotos and Marfan syndrome by Dijkstra, P F, Cole, T R, Oorthuys, J W, Venema, H W, Oosting, J, Nocker, R E

“…Patients with Sotos and Marfan syndrome have unusually long metacarpals and phalanges which may make the differential diagnosis difficult in younger children…”
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Medical genetics: advances in brief: Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families by Cole, T R P

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Medical genetics: advances in brief by Cole, T R P

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Medical genetics: advances in brief by Cole, T R P

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Medical genetics: advances in brief: Monozygotic twins discordant for the major signs of McCune-Albright syndrome by Cole, T R P

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Comments on important genetic topics from papers in other journals by Cole, T R P

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Comments on important genetic topics from papers in other journals: Localisation of the gene encoding the GABAa receptor  3 subunit to the Angelman/Prader-Willi region of human chromosome 15 by Cole, T R P

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Comments on important genetic topics from papers in other journals: Localisation of the gene encoding the GABAa receptor β3 subunit to the Angelman/Prader-Willi region of human chromosome 15 by Cole, T R P

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Comments on important genetic topics from papers in other journals: Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution by Cole, T R P

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Comments on important genetic topics from papers in other journals by Cole, T R P

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